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Barth syndrome
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide...
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Main Authors: | , , , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3583704/ https://ncbi.nlm.nih.gov/pubmed/23398819 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-23 |
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